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    NBPF8 NBPF member 8 [ Homo sapiens (human) ]

    Gene ID: 728841, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NBPF8provided by HGNC
    Official Full Name
    NBPF member 8provided by HGNC
    Primary source
    HGNC:HGNC:31990
    See related
    Ensembl:ENSG00000270231 MIM:613998; AllianceGenome:HGNC:31990
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NBPF8P
    Summary
    This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]
    Expression
    Ubiquitous expression in skin (RPKM 21.3), lymph node (RPKM 19.0) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See NBPF8 in Genome Data Viewer
    Location:
    1p11.2
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (120415027..120469676)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (120428197..120482975)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (146030695..146082439, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene U1 spliceosomal RNA Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:144533911-144534909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:144538085-144538656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:144539249-144539810 Neighboring gene uncharacterized LOC101929788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:144582720-144583220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:144583221-144583722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:144592931-144593854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:144593855-144594776 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:144603371-144603926 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:144603927-144604483 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:144604484-144605039 Neighboring gene profilin 1 pseudogene 2 Neighboring gene PDE4DIP pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1601 Neighboring gene uncharacterized LOC107985524 Neighboring gene uncharacterized LOC124904641

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. DUF1220-domain copy number implicated in human brain-size pathology and evolution. Dumas LJ, et al. Am J Hum Genet, 2012 Sep 7. PMID 22901949, Free PMC Article
    2. Three novel genes tied to mandibular prognathism in eastern Mediterranean families. Genno PG, et al. Am J Orthod Dentofacial Orthop, 2019 Jul. PMID 31256822
    3. Evolutionary history and genome organization of DUF1220 protein domains. O'Bleness MS, et al. G3 (Bethesda), 2012 Sep. PMID 22973535, Free PMC Article
    4. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. Vandepoele K, et al. Mol Biol Evol, 2005 Nov. PMID 16079250
    5. Proteomic analysis of the cullin 4B interactome using proximity-dependent biotinylation in living cells. Zhang H, et al. Proteomics, 2017 Apr. PMID 28225217

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC99641

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    NBPF family member NBPF8; putative neuroblastoma breakpoint family member 8
    Names
    neuroblastoma breakpoint family member 8
    neuroblastoma breakpoint family, member 8, pseudogene

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001037501.5 → NP_001032590.2  NBPF family member NBPF8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the protein.
      Source sequence(s)
      AC241952
      Consensus CDS
      CCDS91029.1
      UniProtKB/Swiss-Prot
      A0A8V8TN03, Q3BBV2
      UniProtKB/TrEMBL
      A0A087WU30, A0A087WZS8
      Related
      ENSP00000513610.1, ENST00000698216.1
      Conserved Domains (1) summary
      pfam06758
      Location:761 → 823
      DUF1220; Repeat of unknown function (DUF1220)

    RNA

    1. NR_102404.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC241952

    2. NR_102405.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC241952

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      120415027..120469676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429836.1 → XP_047285792.1  putative neuroblastoma breakpoint family member 8 isoform X1

      UniProtKB/TrEMBL
      A0AAG2UWE3

    2. XM_047429843.1 → XP_047285799.1  putative neuroblastoma breakpoint family member 8 isoform X2

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791753.1 Reference GRCh38.p14 PATCHES

      Range
      32404..80662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      120428197..120482975
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338598.1 → XP_054194573.1  putative neuroblastoma breakpoint family member 8 isoform X1

      UniProtKB/TrEMBL
      A0AAG2UWE3

    2. XM_054338599.1 → XP_054194574.1  putative neuroblastoma breakpoint family member 8 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3BBV2.2 GenPept UniProtKB/Swiss-Prot:Q3BBV2

    Gene LinkOut

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    Chemical Information
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    Research Materials